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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

http://hdl.handle.net/20.500.12000/47486
http://hdl.handle.net/20.500.12000/47486
747a023a-93ab-4385-9f1f-37ef4134b420
名前 / ファイル ライセンス アクション
1-s2.0-S2214442020300292-main.pdf 1-s2.0-S2214442020300292-main.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-12-15
タイトル
タイトル Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report
言語 en
作成者 Yonamine, Tomoko

× Yonamine, Tomoko

en Yonamine, Tomoko

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Kaname, Tadashi

× Kaname, Tadashi

en Kaname, Tadashi

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Chinen, Yasutsugu

× Chinen, Yasutsugu

en Chinen, Yasutsugu

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Tamashiro, Kouichi

× Tamashiro, Kouichi

en Tamashiro, Kouichi

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Kosuge, Noritake

× Kosuge, Noritake

en Kosuge, Noritake

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Saito, Seiichi

× Saito, Seiichi

en Saito, Seiichi

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アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0
権利情報
言語 en
権利情報Resource https://creativecommons.org/licenses/by-nc-nd/4.0/
権利情報 https://creativecommons.org/licenses/by-nc-nd/4.0/
主題
言語 en
主題Scheme Other
主題 Uterine leiomyoma
主題
言語 en
主題Scheme Other
主題 Papillary renal cell cancer
主題
言語 en
主題Scheme Other
主題 Fumarate hydratase
主題
言語 en
主題Scheme Other
主題 Hereditary leiomyomatosis and renal cell cancer (HLRCC)
内容記述
内容記述タイプ Other
内容記述 Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer. We present the case of a 42-year-old woman with a heterozygous missense mutation (p.M195T) in the fumarate hydratase gene. Although the patient did not have cutaneous leiomyoma and she had no family history of hereditary leiomyomatosis and renal cell cancer, the presence of early onset symptomatic uterine leiomyoma and type 2 papillary renal cell cancer confirmed the diagnosis of hereditary leiomyomatosis and renal cell cancer.
内容記述
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Elsevier
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/47486
識別子タイプ HDL
関連情報
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.eucr.2020.101141
関連情報
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.eucr.2020.101141
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2214-4420
収録物名
言語 en
収録物名 Urology Case Reports
書誌情報
巻 30, 発行日 2020-05
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